Variant report

Variant	esv2759153
Chromosome Location	chr3:61569557-61636156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:104)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:104 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr17:56734668..56738970-chr3:61603973..61616839,24	MCF-7	breast:
2	chr3:61580215..61582138-chr3:61583909..61586635,2	K562	blood:
3	chr17:56635069..56638406-chr3:61603721..61607564,12	MCF-7	breast:
4	chr3:61621266..61623039-chr3:61662503..61664613,2	MCF-7	breast:
5	chr3:61626575..61629364-chr3:61641624..61643310,2	MCF-7	breast:
6	chr17:56656421..56660315-chr3:61617038..61620741,4	MCF-7	breast:
7	chr3:61620148..61620973-chr3:61793249..61794018,3	MCF-7	breast:
8	chr17:56700896..56703722-chr3:61613088..61615186,2	MCF-7	breast:
9	chr3:61624738..61627491-chr3:61638933..61641221,2	MCF-7	breast:
10	chr17:56707994..56711357-chr3:61633694..61636700,3	MCF-7	breast:
11	chr17:56726675..56729447-chr3:61611822..61614442,2	MCF-7	breast:
12	chr17:56707443..56710525-chr3:61604154..61615875,21	MCF-7	breast:
13	chr17:56704810..56711827-chr3:61617461..61633126,28	MCF-7	breast:
14	chr17:56652829..56655079-chr3:61618392..61620524,2	MCF-7	breast:
15	chr17:56643281..56645714-chr3:61608376..61611221,2	MCF-7	breast:
16	chr3:61626740..61629323-chr3:61629960..61632715,2	K562	blood:
17	chr17:56768260..56770134-chr3:61623021..61624941,2	MCF-7	breast:
18	chr17:56708831..56709733-chr3:61623113..61623664,2	MCF-7	breast:
19	chr3:61633524..61635890-chr3:61833241..61835210,2	MCF-7	breast:
20	chr3:61608730..61611507-chr3:61629104..61631590,2	MCF-7	breast:
21	chr3:61613281..61613978-chr3:61630536..61631431,2	MCF-7	breast:
22	chr3:61609621..61617311-chr3:61628614..61634388,16	MCF-7	breast:
23	chr3:61613281..61613978-chr3:61630536..61631431,2	MCF-7	breast:
24	chr17:56734753..56737927-chr3:61621064..61623984,6	MCF-7	breast:
25	chr3:61547448..61549903-chr3:61602070..61604046,2	MCF-7	breast:
26	chr17:56636446..56637355-chr3:61606954..61607719,2	MCF-7	breast:
27	chr17:56716683..56717739-chr3:61613091..61613940,5	MCF-7	breast:
28	chr3:61612690..61615285-chr3:61634905..61638898,3	MCF-7	breast:
29	chr3:61628542..61630516-chr3:61671004..61673939,2	MCF-7	breast:
30	chr3:61611728..61614582-chr3:61688130..61691017,3	MCF-7	breast:
31	chr17:56707424..56710401-chr3:61607664..61609568,2	MCF-7	breast:
32	chr17:56697743..56700013-chr3:61624676..61626397,2	MCF-7	breast:
33	chr17:56734947..56737900-chr3:61624253..61627874,6	MCF-7	breast:
34	chr17:56636075..56637147-chr3:61604733..61605975,7	MCF-7	breast:
35	chr17:56711980..56714923-chr3:61632051..61633866,2	MCF-7	breast:
36	chr3:61613176..61615116-chr3:61627442..61629840,2	MCF-7	breast:
37	chr19:42756346..42758374-chr3:61612171..61614717,2	MCF-7	breast:
38	chr17:56735093..56738053-chr3:61626767..61632576,11	MCF-7	breast:
39	chr17:56637862..56640492-chr3:61612805..61615366,3	MCF-7	breast:
40	chr17:56671414..56673052-chr3:61605898..61608821,2	MCF-7	breast:
41	chr3:61626912..61632333-chr3:61647768..61651580,7	MCF-7	breast:
42	chr3:61587124..61588819-chr3:61607110..61609608,2	MCF-7	breast:
43	chr3:61614514..61617033-chr3:61662536..61664540,2	MCF-7	breast:
44	chr3:61613176..61615116-chr3:61627442..61629840,2	MCF-7	breast:
45	chr3:61580215..61582138-chr3:61583909..61586635,2	K562	blood:
46	chr17:56734480..56737024-chr3:61604208..61605747,2	MCF-7	breast:
47	chr17:56639023..56641286-chr3:61617443..61619170,2	MCF-7	breast:
48	chr17:56636126..56637216-chr3:61604720..61605356,3	MCF-7	breast:
49	chr3:61546938..61548723-chr3:61630365..61632506,2	MCF-7	breast:
50	chr17:56670604..56674197-chr3:61615736..61620320,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266826	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000144724	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000129518	chromatin interactions
ENSG00000076650	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000121101	chromatin interactions
ENSG00000108384	chromatin interactions
ENSG00000202077	chromatin interactions

Extended variants
information (count: 2986 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2986 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13323186	chr3:61569557-61569558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372624995	chr3:61569566-61569567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545527298	chr3:61569651-61569652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558275824	chr3:61569660-61569661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528400461	chr3:61569686-61569687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143095442	chr3:61569690-61569691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541636101	chr3:61569701-61569702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538445057	chr3:61569723-61569724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187523464	chr3:61569741-61569742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1320172	chr3:61569753-61569754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs535914821	chr3:61569761-61569762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79152590	chr3:61569772-61569773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116812425	chr3:61569804-61569805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572733021	chr3:61569810-61569811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192492847	chr3:61569829-61569830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs5849433	chr3:61569868-61569869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563680824	chr3:61569884-61569885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183836402	chr3:61569896-61569897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577551209	chr3:61569985-61569986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544826192	chr3:61570023-61570024	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188902039	chr3:61570050-61570051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575011708	chr3:61570054-61570055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541926311	chr3:61570079-61570080	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141709800	chr3:61570088-61570089	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs72888670	chr3:61570098-61570099	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs41470150	chr3:61570149-61570150	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564829662	chr3:61570161-61570162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542841751	chr3:61570209-61570210	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370300257	chr3:61570248-61570249	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550382733	chr3:61570260-61570261	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs77781843	chr3:61570261-61570262	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs397989845	chr3:61570262-61570263	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373357875	chr3:61570263-61570264	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568675616	chr3:61570278-61570279	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs78661307	chr3:61570305-61570306	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547954372	chr3:61570309-61570310	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs566506895	chr3:61570321-61570322	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs533541946	chr3:61570335-61570336	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561408207	chr3:61570340-61570341	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368978475	chr3:61570349-61570350	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372396672	chr3:61570414-61570415	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs9647380	chr3:61570425-61570426	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138080238	chr3:61570447-61570448	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs114298862	chr3:61570466-61570467	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs6809013	chr3:61570544-61570545	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs142708917	chr3:61570590-61570591	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs192178831	chr3:61570598-61570599	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs150611818	chr3:61570603-61570604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560381025	chr3:61570610-61570611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533148257	chr3:61570611-61570612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:1684 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61550800-61574200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:61558400-61579800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:61560600-61575200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:61560800-61575200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:61562400-61575200	Weak transcription	HSMM	muscle
6	chr3:61562400-61578600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:61564600-61570400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:61564600-61575400	Weak transcription	HUVEC	blood vessel
9	chr3:61564600-61593400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:61564800-61577000	Weak transcription	Fetal Intestine Large	intestine
11	chr3:61565000-61570000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:61565000-61579800	Weak transcription	Adipose Nuclei	Adipose
13	chr3:61565200-61588800	Weak transcription	Fetal Intestine Small	intestine
14	chr3:61565600-61575200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:61566200-61570000	Enhancers	Fetal Heart	heart
16	chr3:61566800-61576800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:61567000-61574200	Weak transcription	Fetal Stomach	stomach
18	chr3:61567000-61577000	Weak transcription	Aorta	Aorta
19	chr3:61567200-61569600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:61567200-61569600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:61567200-61572000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:61567200-61572000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:61567200-61572200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:61567200-61573400	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:61567200-61573600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:61567200-61573800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:61567200-61574400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:61567200-61574800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:61567200-61575200	Weak transcription	HSMMtube	muscle
30	chr3:61567200-61575400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:61567200-61578800	Weak transcription	Brain Anterior Caudate	brain
32	chr3:61567200-61579800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:61567200-61580800	Weak transcription	Fetal Kidney	kidney
34	chr3:61567800-61569600	Enhancers	Right Atrium	heart
35	chr3:61568200-61569600	Enhancers	Ovary	ovary
36	chr3:61568600-61569600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr3:61568600-61569600	Enhancers	Pancreas	Pancrea
38	chr3:61568600-61569800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr3:61568800-61569600	Enhancers	Psoas Muscle	Psoas
40	chr3:61568800-61569600	Enhancers	Spleen	Spleen
41	chr3:61568800-61569800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:61568800-61570600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:61569000-61569600	Enhancers	Left Ventricle	heart
44	chr3:61569000-61569800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:61569000-61572000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr3:61569000-61575200	Weak transcription	Lung	lung
47	chr3:61569200-61570200	Enhancers	Liver	Liver
48	chr3:61569200-61570400	Enhancers	Fetal Lung	lung
49	chr3:61569200-61570600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:61569200-61570600	Enhancers	Colon Smooth Muscle	Colon

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